{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:35:26Z","timestamp":1792035326554,"version":"4.4.0"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T00:00:00Z","timestamp":1721174400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T00:00:00Z","timestamp":1721174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>17\u03b1 Hydroxylase\/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Mean age at admission was 13.54\u2009\u00b1\u20094.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1\u20136 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and \u22121.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1\u20136 deletions may be MLPA in our region.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s12020-024-03962-6","type":"journal-article","created":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T13:02:01Z","timestamp":1721221321000},"page":"1407-1416","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["17\u03b1 Hydroxylase\/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort"],"prefix":"10.1007","volume":"85","author":[{"given":"Zeynep","family":"Siklar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine","family":"Camtosun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semih","family":"Bolu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melek","family":"Yildiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysehan","family":"Akinci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firdevs","family":"Bas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130smail","family":"D\u00fcndar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asli","family":"Bestas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edip","family":"\u00dcnal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar","family":"Kocaay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tulay","family":"Guran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gonul","family":"Buyukyilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1265-4952","authenticated-orcid":false,"given":"Aylin Kilinc","family":"Ugurlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bu\u015fra Gurpinar","family":"Tosun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ihsan","family":"Turan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdal","family":"Kurnaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilgin","family":"Yuksel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doga","family":"Turkkahraman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atilla","family":"Cayir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gamze","family":"Celmeli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Nazli","family":"Gonc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beray Selver","family":"Eklio\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"Cetinkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seniha Kiremitci","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Emre","family":"Atabek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muammer","family":"Buyukinan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emrullah","family":"Arslan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eda","family":"Mengen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra Deniz Papatya","family":"Cakir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Karaoglan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihal","family":"Hatipoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zerrin","family":"Orbak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet","family":"Ucar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nesibe","family":"Akyurek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emine Demet","family":"Akbas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emreg\u00fcl","family":"Isik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sare Betul","family":"Kaygusuz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zumrut Kocabey","family":"Sutcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulcan","family":"Seymen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merih","family":"Berberoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,17]]},"reference":[{"key":"3962_CR1","doi-asserted-by":"publisher","unstructured":"C.A. Marsh, R.J. Auchus, Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase\/17, 20-lyase deficiency and isolated 17, 20-lyase deficiency. Fertil. Steril. (2014). https:\/\/doi.org\/10.1016\/j.fertnstert.2013.11.011","DOI":"10.1016\/j.fertnstert.2013.11.011"},{"key":"3962_CR2","doi-asserted-by":"publisher","unstructured":"Z. Zhao, L. Lu, O. Wang, et al. High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17\u03b1-hydroxylase deficiency. Endocrine. (2022). https:\/\/doi.org\/10.1007\/s12020-021-02966-w","DOI":"10.1007\/s12020-021-02966-w"},{"key":"3962_CR3","doi-asserted-by":"publisher","unstructured":"R.J. Auchus, Steroid 17-hydroxylase and 17, 20-lyase deficiencies, genetic and pharmacologic. J. Steroid Biochem. Mol. Biol. (2017). https:\/\/doi.org\/10.1016\/j.jsbmb.2016.02.002","DOI":"10.1016\/j.jsbmb.2016.02.002"},{"key":"3962_CR4","doi-asserted-by":"publisher","unstructured":"W.L. Miller, Mechanisms in endocrinology: rare defects in adrenal steroidogenesis. Eur. J. Endocrinol. (2018). https:\/\/doi.org\/10.1530\/EJE-18-0279","DOI":"10.1530\/EJE-18-0279"},{"key":"3962_CR5","doi-asserted-by":"publisher","unstructured":"G.P. Finkielstain, A. Vieites, I. Bergad\u00e1, R.A. Rey, Disorders of sex development of adrenal origin. Front Endocrinol. (2021). https:\/\/doi.org\/10.3389\/fendo.2021.770782","DOI":"10.3389\/fendo.2021.770782"},{"key":"3962_CR6","doi-asserted-by":"publisher","unstructured":"M. Zhang, S. Sun, Y. Liu, et al. New, recurrent, and prevalent mutations: clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase\/17, 20-lyase deficiency. J. Steroid Biochem. Mol. Biol. (2015). https:\/\/doi.org\/10.1016\/j.jsbmb.2015.02.007","DOI":"10.1016\/j.jsbmb.2015.02.007"},{"key":"3962_CR7","unstructured":"D.M.M. Chormanski, 17-Hydroxylase Deficiency. [Updated 2023 Jan 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. 3 April (2023) https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK546644\/"},{"key":"3962_CR8","doi-asserted-by":"publisher","unstructured":"F.B. Coeli-Lacchini, L.M. Mermejo, A.F. Bodoni, et al. Clinical, molecular, functional, and structural characterization of CYP17A1 mutations in brazilian patients with 17-hydroxylase deficiency. Horm Metab. Res. (2020). https:\/\/doi.org\/10.1055\/a-1100-7066","DOI":"10.1055\/a-1100-7066"},{"key":"3962_CR9","doi-asserted-by":"publisher","unstructured":"M. Costa-Santos, C.E. Kater, R.J. Auchus, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group.: Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J. Clin. Endocrinol. Metab. (2004). https:\/\/doi.org\/10.1210\/jc.2003-031021","DOI":"10.1210\/jc.2003-031021"},{"key":"3962_CR10","doi-asserted-by":"publisher","unstructured":"B. Han, L. Xue, M. Fan, et al. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect. Endocrine. (2016). https:\/\/doi.org\/10.1007\/s12020-016-0957-y","DOI":"10.1007\/s12020-016-0957-y"},{"key":"3962_CR11","doi-asserted-by":"publisher","unstructured":"A.D. Kardelen, G. Toksoy, F. Ba\u015f, et al. A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations. J. Clin. Res. Pediatr. Endocrinol. (2018). https:\/\/doi.org\/10.4274\/jcrpe.0032","DOI":"10.4274\/jcrpe.0032"},{"key":"3962_CR12","unstructured":"B. K\u00fc\u00e7\u00fckemre-Ayd\u0131n, \u00d6 \u00d6\u011frendil-Yanar, I. Bilge, An easily missed diagnosis: 17-alpha-hydroxylase\/17, 20-lyase deficiency. Turk. J. Pediatr. 57(3), 277\u2013281 (2015)"},{"key":"3962_CR13","doi-asserted-by":"publisher","unstructured":"S. Bolu, R. Er\u00f6z, M. Tekin, M. Do\u011fan, Atypical presentation in patients with 17 \u03b1-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature. Turk J Pediatr. (2020). https:\/\/doi.org\/10.24953\/turkjped.2020.05.019","DOI":"10.24953\/turkjped.2020.05.019"},{"key":"3962_CR14","doi-asserted-by":"publisher","unstructured":"E. Unal, R. Y\u0131ld\u0131r\u0131m, F.F. Ta\u015f, S. Tekin, S. Ceylaner, Y.K. Haspolat, A rare cause of delayed puberty in two cases with 46, XX and 46, XY karyotype: 17 \u03b1-hydroxylase deficiency due to a novel variant in CYP17A1 gene. Gynecol Endocrinol. (2020). https:\/\/doi.org\/10.1080\/09513590.2019.1707798","DOI":"10.1080\/09513590.2019.1707798"},{"key":"3962_CR15","doi-asserted-by":"publisher","unstructured":"E. \u00c7amtosun, Z. \u015e\u0131klar, S. Ceylaner, P. Kocaay, M. Berbero\u011flu, Delayed diagnosis of a 17-hydroxylase\/17, 20-lyase deficient patient presenting as a 46, XY female: a low normal potassium level can be an alerting diagnostic sign. J. Clin. Res. Pediatr. Endocrinol. (2017). https:\/\/doi.org\/10.4274\/jcrpe.3839","DOI":"10.4274\/jcrpe.3839"},{"key":"3962_CR16","doi-asserted-by":"publisher","unstructured":"D. Turkkahraman, T. Guran, H. Ivison, A. Griffin, R. Vijzelaar, N. Krone, Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17\u03b1-hydroxylase deficiency. Sex Dev. (2015). https:\/\/doi.org\/10.1159\/000375183","DOI":"10.1159\/000375183"},{"key":"3962_CR17","doi-asserted-by":"publisher","unstructured":"N. Camats,l A. \u00dcstyo, M.E. Atabek, B. Dick, C.E. Fl\u00fcck, A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17, 20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. Clin Case Rep. (2015). https:\/\/doi.org\/10.1002\/ccr3.343","DOI":"10.1002\/ccr3.343"},{"key":"3962_CR18","doi-asserted-by":"publisher","unstructured":"M. Keskin, A.K. U\u011furlu, \u015e. Sava\u015f-Erdeve, 17\u03b1-Hydroylase\/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene. J. Pediatr. Endocrinol Metab. (2015).https:\/\/doi.org\/10.1515\/jpem-2014-0444","DOI":"10.1515\/jpem-2014-0444"},{"key":"3962_CR19","doi-asserted-by":"publisher","unstructured":"E. Kurnaz, E. Kartal Baykan, A. T\u00fcrky\u0131lmaz, et al. Genotypic sex and severity of the disease determine the time of clinical presentation in steroid 17\u03b1-hydroxylase\/17,20-lyase deficiency. Horm Res. Paediatr. (2020). https:\/\/doi.org\/10.1159\/000515079","DOI":"10.1159\/000515079"},{"key":"3962_CR20","doi-asserted-by":"publisher","unstructured":"A. Be\u015fta\u015f, S. Bolu, E. Unal, et al. A rare cause of delayed puberty and primary amenorrhea: 17\u03b1-hydroxylase enzyme deficiency. Endocrine (2022). https:\/\/doi.org\/10.1007\/s12020-021-02914-8","DOI":"10.1007\/s12020-021-02914-8"},{"key":"3962_CR21","doi-asserted-by":"publisher","unstructured":"S. Turan, A. Bereket, T. Guran, T. Akcay, M. Papari-Zareei, R.J. Auchus, Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair. Eur. J. Endocrinol. (2009). https:\/\/doi.org\/10.1530\/EJE-08-0632","DOI":"10.1530\/EJE-08-0632"},{"key":"3962_CR22","doi-asserted-by":"publisher","unstructured":"O. Neyzi, R. Bundak, G. G\u00f6k\u00e7ay, H. G\u00fcn\u00f6z, A. Furman, F. Darendeliler, F. Ba\u015f, Reference values for weight, height, head circumference, and body mass index in Turkish children. J. Clin. Res. Pediatr. Endocrinol. (2015).https:\/\/doi.org\/10.4274\/jcrpe.2183","DOI":"10.4274\/jcrpe.2183"},{"issue":"1","key":"3962_CR23","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1542\/peds.109.1.45","volume":"109","author":"CL Ogden","year":"2002","unstructured":"C.L. Ogden, R.J. Kuczmarski, K.M. Flegal, Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version. Pediatrics 109(1), 45\u201360 (2002)","journal-title":"Pediatrics"},{"key":"3962_CR24","doi-asserted-by":"publisher","unstructured":"M.B. Ranke, Towards a consensus on the definition of idiopathic short stature. Horm Res (1996). https:\/\/doi.org\/10.1159\/000184851","DOI":"10.1159\/000184851"},{"key":"3962_CR25","doi-asserted-by":"publisher","unstructured":"C. Traggiai, R. Stanhope, Delayed puberty. Best Pract. Res. Clin. Endocrinol Metab. (2002). https:\/\/doi.org\/10.1053\/beem.2001.0186","DOI":"10.1053\/beem.2001.0186"},{"issue":"2 Suppl 4th Rep","key":"3962_CR26","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1542\/peds.114.S2.555","volume":"114","author":"National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents","year":"2004","unstructured":"National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents, The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents. Pediatrics 114(2 Suppl 4th Report), 555\u2013576 (2004)","journal-title":"Pediatrics"},{"key":"3962_CR27","volume-title":"A radiographic standard of reference for the growing hand and wrist","author":"WW Greulich","year":"1971","unstructured":"W.W. Greulich, S.I. Pyle, A.M. Waterhouse. A radiographic standard of reference for the growing hand and wrist. (Case Western Reserve University, Chicago), 1971)"},{"key":"3962_CR28","doi-asserted-by":"publisher","unstructured":"M.M. Alswailem, O.S. Alzahrani, D.S. Alhomaidah, R. Alasmari, E. Qasem, A.K. Murugan, A. Alsagheir, I. Brema, B.B. Abbas, M. Almehthel, A. Almeqbali, A.S. Alzahrani, Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population. Mol Cell EndocrinoL, (2018). https:\/\/doi.org\/10.1016\/j.mce.2017.08.022","DOI":"10.1016\/j.mce.2017.08.022"},{"key":"3962_CR29","doi-asserted-by":"publisher","unstructured":"M. Sun, J.W. Mueller, L.C. Gilligan, A.E. Taylor, F. Shaheen, A. Noczy\u0144ska, G. T\u2019Sjoen, L. Denvir, S. Shenoy, P. Fulton, T.D. Cheetham, H. Gleeson, M. Rahman, N.P. Krone, N.F. Taylor, C.H.L. Shackleton, W. Arlt, J Idkowiak, The broad phenotypic spectrum of 17\u03b1-hydroxylase\/17,20-lyase (CYP17A1) deficiency: a case series. Eur J Endocrinol. (2021). https:\/\/doi.org\/10.1530\/EJE-21-0152","DOI":"10.1530\/EJE-21-0152"},{"key":"3962_CR30","doi-asserted-by":"publisher","unstructured":"D. Zhang, F. Yao, M. Luo, Y. Wang, T. Tian, S. Deng, Q. Tian, Clinical characteristics and molecular etiology of partial 17\u03b1-hydroxylase deficiency diagnosed in 46,XX patients. Front Endocrinol. (2022). https:\/\/doi.org\/10.3389\/fendo.2022.978026","DOI":"10.3389\/fendo.2022.978026"},{"key":"3962_CR31","doi-asserted-by":"publisher","unstructured":"Y.M. Kim, M. Kang, J.H. Choi, B.H. Lee, G.H. Kim, J.H. Ohn, S.Y. Kim, M.S. Park, H.W. Yoo, A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase\/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism. (2014). https:\/\/doi.org\/10.1016\/j.metabol.2013.08.015","DOI":"10.1016\/j.metabol.2013.08.015"},{"key":"3962_CR32","doi-asserted-by":"publisher","unstructured":"J. Qiao, X. Chen, C.L. Zuo, Y.Y. Gu, B.L. Liu, J. Liang, Y.L. Lu, J.F. Tang, Y.X. Wu, M.D. Chen, J.L. Chen, W.L. Wu, H.D. Song, Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase\/17,20-lyase deficiency. Clin Endocrinol. (2010). https:\/\/doi.org\/10.1111\/j.1365-2265.2009.03607.x","DOI":"10.1111\/j.1365-2265.2009.03607.x"},{"key":"3962_CR33","doi-asserted-by":"publisher","unstructured":"L.C. Carvalho, V.N. Brito, R.M. Martin, A.M. Zamboni, L.G. Gomes, M. In\u00e1cio, L.M. Mermejo, F. Coeli-Lacchini, V.R. Teixeira, F.T. Gon\u00e7alves, A.J. Carrilho, K.Y. Del Toro Camargo, G.P. Finkielstain, G.F. Taboada, E.M. Frade Costa, S. Domenice, B.B. Mendonca, Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. Fertil Steril. (2016). https:\/\/doi.org\/10.1016\/j.fertnstert.2016.02.008","DOI":"10.1016\/j.fertnstert.2016.02.008"},{"key":"3962_CR34","doi-asserted-by":"publisher","unstructured":"F. Yao, S. Huang, X. Kang, W. Zhang, P. Wang, Q. Tian, CYP17A1 mutations identified in 17 Chinese patients with 17\u03b1-hydroxylase\/17,20-lyase deficiency. Gynecol Endocrinol. (2013). https:\/\/doi.org\/10.3109\/09513590.2012.705373","DOI":"10.3109\/09513590.2012.705373"},{"key":"3962_CR35","doi-asserted-by":"publisher","unstructured":"Y. Xu, S. Jiang, Z. Yan, Y. Niu, W. Du, B. Liu, B. Han, X. Liu, S. Zhao, H. Song, Y. Kuang, J. Qiao, Phenotypic heterogeneity and fertility potential of patients with 17-hydroxylase\/17,20-lyase deficiency. J Clin Endocrinol Metab. (2022). https:\/\/doi.org\/10.1210\/clinem\/dgac029","DOI":"10.1210\/clinem\/dgac029"},{"key":"3962_CR36","doi-asserted-by":"publisher","unstructured":"F.L. Britten, K.B. Ulett, E.L. Duncan, D.A. Perry-Keene, Primary amenorrhoea with hypertension: undiagnosed 17-\u03b1-hydroxylase deficiency. Med J. Aust. (2013). https:\/\/doi.org\/10.5694\/mja12.11619","DOI":"10.5694\/mja12.11619"},{"key":"3962_CR37","doi-asserted-by":"publisher","unstructured":"D.J. Morris, S.A. Latif, A.S. Brem, An alternative explanation of hypertension associated with 17\u03b1-hydroxylase deficiency syndrome. Steroids (2014). https:\/\/doi.org\/10.1016\/j.steroids.2013.10.006","DOI":"10.1016\/j.steroids.2013.10.006"},{"key":"3962_CR38","doi-asserted-by":"publisher","unstructured":"Y.M. Bee, C. Manju, M. Papari-Zareei, R.J. Auchus, Phenotypic variation in a Chinese family with 46,XY and 46,XX 17\u03b1-hydroxylase deficiency. Gynecol. Endocrinol. (2012). https:\/\/doi.org\/10.3109\/09513590.2011.631625","DOI":"10.3109\/09513590.2011.631625"},{"key":"3962_CR39","doi-asserted-by":"publisher","unstructured":"A.P. Athanasoulia, M. Auer, F.G. Riepe, G.K. Stalla, Rare missense P450c17 (CYP17A1) mutation in exon 1 as a cause of 46,XY disorder of sexual development: implications of breast tissue \u201cunresponsiveness\u201d despite adequate estradiol substitution. Sex. Dev. (2013). https:\/\/doi.org\/10.1159\/000348301","DOI":"10.1159\/000348301"},{"key":"3962_CR40","doi-asserted-by":"publisher","unstructured":"C.G. Ruf, N. Sanatgar, H. Isbarn, Leydig-cell tumour of the testis: retrospective analysis of clinical and therapeutic features in 204 cases. World J. Urol. (2020). https:\/\/doi.org\/10.1007\/s00345-020-03079-1","DOI":"10.1007\/s00345-020-03079-1"},{"key":"3962_CR41","doi-asserted-by":"publisher","unstructured":"V. Sarathi, R. Reddy, S. Atluri, C. Shivaprasad, A challenging case of primary amenorrhoea. BMJ Case Rep. bcr2018225447 (2018). https:\/\/doi.org\/10.1136\/bcr-2018-225447","DOI":"10.1136\/bcr-2018-225447"},{"issue":"3","key":"3962_CR42","doi-asserted-by":"publisher","first-page":"bvac011","DOI":"10.1210\/jendso\/bvac011","volume":"6","author":"M Maheshwari","year":"2022","unstructured":"M. Maheshwari, S. Arya, A.R: Lila, 17\u03b1-hydroxylase\/17,20-lyase deficiency in 46,XY: Our experience and review of literature. J. Endocr. Soc. 6(3), bvac011 (2022). https:\/\/doi.org\/10.1210\/jendso\/bvac011","journal-title":"J. Endocr. Soc."},{"key":"3962_CR43","doi-asserted-by":"publisher","unstructured":"L. Lu, F. Luo, X. Wang, Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies. Front Pediatr. (2022). https:\/\/doi.org\/10.3389\/fped.2022.856128","DOI":"10.3389\/fped.2022.856128"}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-024-03962-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-024-03962-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-024-03962-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T02:22:47Z","timestamp":1723256567000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-024-03962-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,17]]},"references-count":43,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["3962"],"URL":"https:\/\/doi.org\/10.1007\/s12020-024-03962-6","relation":{},"ISSN":["1559-0100"],"issn-type":[{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,17]]},"assertion":[{"value":"18 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ankara University Human Research Ethics Committee (approval number: \u01302-131-21).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}